Vestibular impairment in patients with Charcot-Marie-Tooth disease

Abstract

OBJECTIVE: This case-control study aimed to determine whether the imbalance in CharcotMarie-tooth (CMT) disease is caused only by reduced proprioceptive input or whether the involvement of the vestibular nerve is an additional factor. METHODS: Fifteen patients with CMT disease (aged 48 ± 17 years; 8 women) underwent cervical vestibular-evoked myogenic potentials, which reflect otolithspinal reflex function, and quantitative horizontal search-coil head-impulse testing, which assesses the high-acceleration vestibulo-ocular reflex of the semicircular canals. RESULTS: Relative to healthy agematched control subjects, cervical vestibular-evoked myogenic potentials were found to be impaired in 75% of patients (average p13 latency: 23.0 ± 2.7 milliseconds, p = 0.01; average n23 latency: 29.0 ± 1.8 milliseconds, p = 0.01) and the quantitative head-impulse test in 60% of patients (average gain ± 1 SD: 0.67 ± 0.24, p < 0.001). All patients with head-impulse test impairment also showed cervical vestibularevoked myogenic potential abnormalities, while the reverse was not true. CONCLUSIONS: We conclude that the neuropathic process in patients with CMT disease frequently involves the vestibular nerve and that cervical vestibular-evoked myogenic potentials may be more sensitive than quantitative head-impulse testing for detecting vestibular involvement, in particular at an early disease stage.

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

“…Sixty-one percent of the paediatric CMT1 patients (16/18 with PMP22 duplication) showed significantly impaired speech perception ability, although they showed normal or near-normal sound detection [47]. Vestibular impairment seems to be frequent in patients with CMT [48]. Phrenic nerve involvement, causing dyspnoea when lying flat or nocturnal hypoventilation, is infrequent in CMT1A, but has been reported in some, severely affected, patients (in 5% [26] and 3.5% [28], respectively).…”

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the <b><i>MPZ</i></b> Gene

“…Vestibular abnormalities detected by electrophysiology have been described in CMT [Poretti et al, 2013].…”

“…Vestibular test impairments have also been described in CMT syndrome [Poretti et al, 2013]. In the report by Starr et al [2003], the sensory epithelium of the vestibular system and the number of cell bodies in Scarpa's ganglion were reported as normal.…”

Vestibular-Evoked Myogenic Potential Testing in Vestibular Localization and Diagnosis

“…Threshold measurements can complement amplitudes in identifying a third-mobile window effect, 19 and latencies play an important role in the diagnosis of demyelinating lesions affecting the vestibular nerve and central otolithic pathways. 20,21 A key advantage of recording VEMPs is they test a different part of the vestibular system to caloric and video head impulse testing and are thus complementary to the assessment of vestibular function. They have a unique and very specific role in the diagnosis of third-mobile window disorders and, when combined with tests of canal function, assist in the demonstration of profiles of abnormalities for disorders such as Ménière's disease (MD) and vestibular neuritis (VN).…”

“…cVEMPs were unilaterally or bilaterally absent in only 2 of the 14 patients, whereas 9 showed prolonged latencies in one or both ears and 5 demonstrated asymmetrical amplitudes. 21 Recordings from a patient with CMT1A demonstrating the pattern of pronounced latency delays are shown in ►Fig. 4B.…”